A50V (p.Ala50Val) variant of ADCY5 (Adenylate cyclase type 5)
A50V (p.Ala50Val) in ADCY5 (Adenylate cyclase type 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A50V (p.Ala50Val) variant details
- p.Ala50Val
- TOPMed rs1328717130
- gnomAD rs1328717130
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.19
- MetaLR 0.20
- MetaSVM -0.95
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available